Variant report

Variant	nsv879617
Chromosome Location	chr4:94980768-95055821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94712668..94713389-chr4:95048586..95049226,3	MCF-7	breast:
2	chr4:95048687..95051315-chr4:95128789..95130574,2	MCF-7	breast:
3	chr4:94712445..94713412-chr4:95047150..95048494,9	MCF-7	breast:
4	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
5	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:
6	chr4:95053044..95055234-chr4:95055745..95057514,2	K562	blood:
7	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
8	chr4:94818194..94819480-chr4:95047856..95049178,6	MCF-7	breast:
9	chr4:94902454..94905004-chr4:94999275..95001827,2	K562	blood:
10	chr4:95041063..95042788-chr4:95044128..95046307,2	MCF-7	breast:
11	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
12	chr4:95041063..95042788-chr4:95044128..95046307,2	MCF-7	breast:
13	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:
14	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:
15	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
16	chr4:95053044..95055234-chr4:95055745..95057514,2	K562	blood:
17	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:
18	chr4:94712445..94713368-chr4:95047510..95048534,4	MCF-7	breast:
19	chr4:94818426..94818969-chr4:95048490..95049106,2	K562	blood:
20	chr4:94712548..94713256-chr4:95047502..95048048,2	K562	blood:
21	chr4:94631324..94632139-chr4:95048906..95049577,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-2	chr4:95010890-95010920	NONHSAT097440
2	lnc-SMARCAD1-2	chr4:95008196-95008609	NONHSAT097440
3	lnc-SMARCAD1-2	chr4:95007501-95007629	NONHSAT097440
4	lnc-HPGDS-1	chr4:95046052-95046193	ENSG00000246541
5	lnc-HPGDS-1	chr4:95039932-95040062	ENSG00000246541
6	lnc-HPGDS-1	chr4:95038943-95039252	ENSG00000246541

No data

Variant related genes	Relation type
ENSG00000163104	chromatin interactions
ZNF689	miRNA target sites
SLC16A2	miRNA target sites
OFD1	miRNA target sites

Extended variants
information (count: 1372 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571101939	chr4:94982043-94982044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555728909	chr4:94982057-94982058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150561804	chr4:94982063-94982064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56944631	chr4:94982133-94982134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566484559	chr4:94982134-94982135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186181883	chr4:94982244-94982245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572061734	chr4:94982250-94982251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375107586	chr4:94982253-94982254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535123848	chr4:94982361-94982362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555204673	chr4:94982367-94982368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs280080	chr4:94982437-94982438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564406517	chr4:94982458-94982459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543954239	chr4:94982475-94982476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549029320	chr4:94982513-94982514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190160197	chr4:94982580-94982581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138590084	chr4:94982734-94982735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546265260	chr4:94982739-94982740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567517915	chr4:94982766-94982767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375368542	chr4:94982784-94982785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182802024	chr4:94982966-94982967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs280079	chr4:94983029-94983030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528460162	chr4:94983031-94983032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187849581	chr4:94983071-94983072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs280078	chr4:94983101-94983102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531226939	chr4:94983104-94983105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192142056	chr4:94983118-94983119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142849362	chr4:94983138-94983139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368818468	chr4:94983237-94983238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533388539	chr4:94983267-94983268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546645061	chr4:94983285-94983286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566458049	chr4:94983305-94983306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147435511	chr4:94983312-94983313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554944320	chr4:94983326-94983327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568561616	chr4:94983393-94983394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182886261	chr4:94983411-94983412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563763878	chr4:94983413-94983414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577761899	chr4:94983435-94983436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557667624	chr4:94983528-94983529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188636713	chr4:94983596-94983597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368409459	chr4:94983605-94983606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540077311	chr4:94983628-94983629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553398475	chr4:94983688-94983689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573268213	chr4:94983726-94983727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372738857	chr4:94983729-94983730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76207391	chr4:94983780-94983781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142515733	chr4:94983787-94983788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562053035	chr4:94983792-94983793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375633186	chr4:94983815-94983816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572350088	chr4:94983875-94983876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139427405	chr4:94983955-94983956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94982000-94982600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:94982000-94982600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:94982000-94982600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:94982000-94982800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:94982000-94983000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:94982600-94989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:94982600-94989600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:94983000-94984800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:94983600-94984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:94984600-94985600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:94985600-94986400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:94986400-94989400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:94986400-94989400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:94988600-94990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:94989200-94989800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:94989400-94989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:94989400-94989800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:94989400-94989800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:94989400-94990600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:94989400-94990800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:94989400-94990800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:94989600-94989800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:94989600-94990000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:94989800-94990200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr4:94989800-94990200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:94989800-94990400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:94989800-94990400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:94989800-94990400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:94989800-94990600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:94989800-94990600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:94989800-94990600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:94990000-94990400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:94990000-94990400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:94990000-94990400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:94990200-94990400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:94990200-94990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:94990200-94991000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:94990400-94990800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:94990400-94990800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:94990800-94992000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:94992200-94992400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:94994800-94997800	Active TSS	K562	blood
43	chr4:94997800-94998400	Enhancers	K562	blood
44	chr4:95001400-95002800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr4:95002200-95002600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:95002200-95002600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:95002800-95004200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr4:95017800-95018000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:95019400-95019800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95035200-95039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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